Works by Kärppä, Mikko

Results: 25

Feasibility and patient acceptability of a commercially available wearable and a smart phone application in identification of motor states in parkinson's disease.

Published in:

PLoS Digital Health, 2023, v. 1, n. 4, p. 1, doi. 10.1371/journal.pdig.0000225

By:

Liikkanen, Sammeli;
Sinkkonen, Janne;
Suorsa, Joni;
Kaasinen, Valtteri;
Pekkonen, Eero;
Kärppä, Mikko;
Scheperjans, Filip;
Huttunen, Teppo;
Sarapohja, Toni;
Pesonen, Ullamari;
Kuoppamäki, Mikko;
Keränen, Tapani

Publication type:

Article

Atypical phenotypes in titinopathies explained by second titin mutations.

Published in:

Annals of Neurology, 2014, v. 75, n. 2, p. 230, doi. 10.1002/ana.24102

By:

Evilä, Anni;
Vihola, Anna;
Sarparanta, Jaakko;
Raheem, Olayinka;
Palmio, Johanna;
Sandell, Satu;
Eymard, Bruno;
Illa, Isabel;
Rojas‐Garcia, Ricard;
Hankiewicz, Karolina;
Negrão, Luis;
Löppönen, Tuija;
Nokelainen, Pekka;
Kärppä, Mikko;
Penttilä, Sini;
Screen, Mark;
Suominen, Tiina;
Richard, Isabelle;
Hackman, Peter;
Udd, Bjarne

Publication type:

Article

Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate‐induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 11, p. 2125, doi. 10.1111/epi.14568

By:

Hynynen, Johanna;
Pokka, Tytti;
Komulainen‐Ebrahim, Jonna;
Myllynen, Päivi;
Kärppä, Mikko;
Pylvänen, Laura;
Kälviäinen, Reetta;
Sokka, Arja;
Jyrkilä, Aino;
Lähdetie, Jaana;
Haataja, Leena;
Mäkitalo, Anna;
Ylikotila, Pauli;
Eriksson, Kai;
Haapala, Piia;
Ansakorpi, Hanna;
Hinttala, Reetta;
Vieira, Päivi;
Majamaa, Kari;
Rantala, Heikki

Publication type:

Article

Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 67, doi. 10.1007/s10545-015-9865-1

By:

Lindroos, Markus;
Pärkkä, Jussi;
Taittonen, Markku;
Iozzo, Patricia;
Kärppä, Mikko;
Hassinen, Ilmo;
Knuuti, Juhani;
Nuutila, Pirjo;
Majamaa, Kari

Publication type:

Article

Amyloid myopathy: a diagnostic challenge.

Published in:

Neurology International, 2009, v. 1, p. 24, doi. 10.4081/ni.2009.e7

By:

Tuomaala, Heli;
Kärppä, Mikko;
Tuominen, Hannu;
Remes, Anne M.

Publication type:

Article

Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G.

Published in:

Journal of Neurology, 2004, v. 251, n. 5, p. 556, doi. 10.1007/s00415-004-0363-x

By:

Kärppä, Mikko;
Mahjneh, Ibrahim;
Karttunen, Ari;
Tolonen, Uolevi;
Majamaa, Kari

Publication type:

Article

Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA.

Published in:

Journal of Neurology, 2003, v. 250, n. 2, p. 216, doi. 10.1007/s00415-003-0981-8

By:

Kärppä, Mikko;
Syrjälä, Pirjo;
Tolonen, Uolevi;
Majamaa, Kari

Publication type:

Article

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.

Published in:

2018

By:

Kullar, Peter J.;
Gomez-Duran, Aurora;
Gammage, Payam A.;
Garone, Caterina;
Minczuk, Michal;
Golder, Zoe;
Wilson, Janet;
Montoya, Julio;
Häkli, Sanna;
Kärppä, Mikko;
Horvath, Rita;
Majamaa, Kari;
Chinnery, Patrick F.

Publication type:

journal article

Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.

Published in:

Brain: A Journal of Neurology, 2005, v. 128, n. 8, p. 1861

By:

Mikko Kärppä;
Riitta Herva;
Ali-Reza Moslemi;
Anders Oldfors;
Sakari Kakko;
Kari Majamaa

Publication type:

Article

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0377-8

By:

Soini, Heidi K.;
Väisänen, Antti;
Kärppä, Mikko;
Hinttala, Reetta;
Kytövuori, Laura;
Moilanen, Jukka S.;
Uusimaa, Johanna;
Majamaa, Kari

Publication type:

Article

Status epilepticus in POLG disease: a large multinational study.

Published in:

Journal of Neurology, 2024, v. 271, n. 8, p. 5156, doi. 10.1007/s00415-024-12463-5

By:

Hikmat, Omar;
Naess, Karin;
Engvall, Martin;
Klingenberg, Claus;
Rasmussen, Magnhild;
Brodtkorb, Eylert;
Ostergaard, Elsebet;
de Coo, Irenaeus;
Pias-Peleteiro, Leticia;
Isohanni, Pirjo;
Uusimaa, Johanna;
Majamaa, Kari;
Kärppä, Mikko;
Ortigoza-Escobar, Juan Dario;
Tangeraas, Trine;
Berland, Siren;
Harrison, Emma;
Biggs, Heather;
Horvath, Rita;
Darin, Niklas

Publication type:

Article

A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease.

Published in:

Journal of Neurology, 2012, v. 259, n. 8, p. 1585, doi. 10.1007/s00415-011-6382-5

By:

Marttila, Maria;
Rautenstrauss, Bernd;
Huehne, Kathrin;
Laitinen, Virpi;
Majamaa, Kari;
Kärppä, Mikko

Publication type:

Article

Impact of age and sex on the efficacy of fremanezumab in patients with difficult-to-treat migraine: results of the randomized, placebo-controlled, phase 3b FOCUS study.

Published in:

Journal of Headache & Pain, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s10194-021-01336-1

By:

MaassenVanDenBrink, Antoinette;
Terwindt, Gisela M.;
Cohen, Joshua M.;
Barash, Steve;
Campos, Verena Ramirez;
Galic, Maja;
Ning, Xiaoping;
Kärppä, Mikko

Publication type:

Article

Efficacy and safety of fremanezumab in patients with migraine and inadequate response to prior preventive treatment: subgroup analyses by country of a randomized, placebo-controlled trial.

Published in:

Journal of Headache & Pain, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s10194-021-01232-8

By:

Spierings, Egilius L. H.;
Kärppä, Mikko;
Ning, Xiaoping;
Cohen, Joshua M.;
Campos, Verena Ramirez;
Yang, Ronghua;
Reuter, Uwe

Publication type:

Article

Relative contribution of comorbid diseases to health-related quality of life in patients with Parkinson's disease.

Published in:

Journal of Patient-Reported Outcomes, 2024, v. 8, n. 1, p. 1, doi. 10.1186/s41687-024-00746-4

By:

Keränen, Maija-Helena;
Kytövuori, Laura;
Huhtakangas, Juha;
Kärppä, Mikko;
Majamaa, Kari

Publication type:

Article

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Published in:

BMC Neurology, 2010, v. 10, p. 29, doi. 10.1186/1471-2377-10-29

By:

Komulainen, Tuomas;
Hinttala, Reetta;
Kärppä, Mikko;
Pajunen, Leila;
Finnilä, Saara;
Tuominen, Hannu;
Rantala, Heikki;
Hassinen, Ilmo;
Majamaa, Kari;
Uusimaa, Johanna

Publication type:

Article

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.

Published in:

Clinical Case Reports, 2016, v. 4, n. 12, p. 1151, doi. 10.1002/ccr3.722

By:

Palmio, Johanna;
Kärppä, Mikko;
Baumann, Peter;
Penttilä, Sini;
Moilanen, Jukka;
Udd, Bjarne

Publication type:

Article

Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy.

Published in:

2019

By:

Samuelsson, Kristin;
Radovic, Ana;
Press, Rayomand;
Auranen, Mari;
Ylikallio, Emil;
Tyynismaa, Henna;
KäRppä, Mikko;
Veteläinen, Matilda;
Peltola, Niina;
Mellgren, Svein Ivar;
Mygland, Åse;
Tallaksen, Chantal;
Andersen, Henning;
Terkelsen, Astrid Juhl;
Fontain, Freja;
Hietaharju, Aki

Publication type:

journal article

Perspectives of Clients and Health Care Professionals on the Opportunities for Digital Health Interventions in Cerebrovascular Disease Care: Qualitative Descriptive Study.

Published in:

Journal of Medical Internet Research, 2024, v. 26, p. 1, doi. 10.2196/52715

By:

Härkönen, Henna;
Myllykangas, Kirsi;
Kärppä, Mikko;
Rasmus, Kirsi Maaria;
Gomes, Julius Francis;
Immonen, Milla;
Hyvämäki, Piia;
Jansson, Miia

Publication type:

Article

Facilitators, Barriers, and Possible Solutions to Improve the Quality of Counselling in Patients With Cerebrovascular Diseases: A Descriptive Qualitative Study.

Published in:

Scandinavian Journal of Caring Sciences, 2025, v. 39, n. 1, p. 1, doi. 10.1111/scs.70024

By:

Myllykangas, Kirsi;
Härkönen, Henna;
Kääriäinen, Maria;
Kärppä, Mikko;
Jansson, Miia

Publication type:

Article

Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.

Published in:

2018

By:

Kärppä, Mikko;
Kytövuori, Laura;
Saari, Markku;
Majamaa, Kari

Publication type:

journal article

Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.

Published in:

2017

By:

Kytövuori, Laura;
Kärppä, Mikko;
Tuominen, Hannu;
Uusimaa, Johanna;
Saari, Markku;
Hinttala, Reetta;
Majamaa, Kari

Publication type:

journal article

Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.

Published in:

Neuroepidemiology, 2017, v. 49, n. 1/2, p. 34, doi. 10.1159/000478860

By:

Marttila, Maria;
Kytövuori, Laura;
Helisalmi, Seppo;
Kallio, Mika;
Laitinen, Marjo;
Hiltunen, Mikko;
Kärppä, Mikko;
Majamaa, Kari

Publication type:

Article

Validation of the Finnish Version of the Unified Dyskinesia Rating Scale.

Published in:

European Neurology, 2021, v. 84, n. 6, p. 444, doi. 10.1159/000517369

By:

Kaasinen, Valtteri;
Scheperjans, Filip;
Kärppä, Mikko;
Korpela, Jaana;
Brück, Anna;
Sipilä, Jussi O.T.;
Joutsa, Juho;
Järvelä, Juha;
Eerola-Rautio, Johanna;
Martikainen, Mika H.;
Airaksinen, Katja;
Stebbins, Glenn T.;
Martinez-Martin, Pablo;
Goetz, Christopher G.;
Lin, Jeffrey;
Luo, Sheng;
Pekkonen, Eero

Publication type:

Article

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

Published in:

2010

By:

F.^O'Toole, John;
Liu, Yangjian;
Davis, Erica E.;
Westlake, Christopher J.;
Attanasio, Massimo;
Otto, Edgar A.;
Seelow, Dominik;
Nurnberg, Gudrun;
Becker, Christian;
Nuutinen, Matti;
Kärppä, Mikko;
Ignatius, Jaakko;
Uusimaa, Johanna;
Pakanen, Salla;
Jaakkola, Elisa;
van^den^Heuvel, Lambertus P.;
Fehrenbach, Henry;
Wiggins, Roger;
Goyal, Meera;
Zhou, Weibin

Publication type:

journal article